Identifying and characterising Lynch syndrome within the population

Researcher

Project Details

Individuals who carry a mutation within one of the DNA mismatch repair genes have a high risk of developing CRC and endometrial cancers predominantly but also a number of other cancers and is otherwise known as Lynch syndrome. Our research has focused on the diagnostic utility and effectiveness of CRC and endometrial tumour screening to identify MMR gene mutation carriers. We have made significant progress in the understanding of individuals suspected to have Lynch syndrome but in whom no MMR gene mutation can be identified. We continue to work collaboratively towards classifiying MMR gene variants of uncertain clinical significance and the identification of more complex gene mutations that are not commonly assessed in routine clinical diagnostics but represent a clinically significant group of individuals and families. Our future work will focus on identifying genetic factors that modify the risk of developing cancer in mutation carriers. [Lynch syndrome Australia webpage ]